Lv11
68 积分 2022-03-03 加入
Genotype impacts survival in Marfan syndrome
1小时前
待确认
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease
2天前
已完结
Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients
3天前
已完结
RNA sequencing combined with whole-exome sequencing revealed familial homocystinemia due to MTHFR deficiency and its complex splicing events
4天前
已完结
Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1
8天前
已完结
Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1
8天前
已完结
Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study
10天前
已完结
Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection
12天前
已完结
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
12天前
已完结
The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study
14天前
已关闭
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